A 10 month old girl born of non consanguineous marriage presented with not gaining weight, recurrent loose motions and fever since 3 months of age. She has been treated for the same several times but there has been no response. She was a full term home delivery and was on exclusive breast feeds till 5 months of age following which weaning was started. At present child is on breast feeds and normal diet. She has delayed milestones and has achieved only head holding and social smile. She has an elder brother who is 2 years hold and is normal. On examination, she was wasted {weight = 3.5 kg, length = 60 cm}, had oral thrush and loss of subcutaneous fat. There were no lymphadenopathy and tonsils were absent. Systemic examination was normal.

What is the diagnosis_?

Question :

What is the diagnosis_?

Expert Opinion :

This child has failure to thrive with recurrent infections. Hence an underlying immune dysfunction should be ruled out such as primary immunodeficiency and HIV. Since the onset of problems has been since 3 months of age, it suggests a problem in the T cells. {B cell defects usually present after 6 months of age due to relative protection by maternally acquired antibodies}. T-cell defects present in the peri-neonatal period. Acquired immunodeficiency is a possibility but they usually have other features such as lymphadenopathy and hepatosplenomegaly. In this child absence of tonsils and Lymphnodes suggests poor developed centers for T cells and a T cell defect such as severe combined immunodeficiency {SCID} is a possibility. Agammaglobulinemia can also present with absent tonsils and lymph nodes but the children. SCID can be confirmed by absent thymus and decreased T cells on flow cytometry {poor CD3, CD4 and CD8} cells lineage. In this child CD3, CD4 and CD8 were deficient with decreased CD19 levels suggestive of T-B- SCID.
Severe combined immunodeficiency syndrome {SCID} is a rare genetic disorder characterized by defective or absent T cell and B cell function. They usually present in the first 6 months of life with sepsis, disseminated tuberculosis following BCG vaccine, candidiasis, pneumocystis carinii pneumonia, severe viral infections, chronic diarrhea, failure to thrive and malabsorption. It is classified into 2 major groups: those without T cells and B cells {T- B-} and those with B cells {T- Bplus}. Most patients with SCID have thymic hypoplasia and small, poorly developed lymph nodes and tonsils and thus absent tonsils as well as poorly formed Lymphnodes could be clinical markers of SCID in an infant with recurrent infections. SCID is often fatal within the first year of life unless rescued with bone marrow transplant or curative hematopoietic stem cell transplant.

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